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Article

Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice.

Human molecular genetics - 15 May 2010

Cao Jiumei, Gong Limin, Guo Dong-chuan, Mietzsch Ulrike, Kuang Shao-Qing, Kwartler Callie S, Safi Hazim, Estrera Anthony, Gambello Michael J, Milewicz Dianna M

Abstract excerpt

Tuberous sclerosis complex (TSC) is a genetic disorder with pleiotropic manifestations caused by heterozygous mutations in either TSC1 or TSC2. One of the less investigated complications of TSC is the formation of aneurysms of the descending aorta, which are characterized on pathologic examinatio...

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Source

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Identifiers

PMID: 20159776
DOI: 10.1093/hmg/ddq066
PMCID: PMC2860890

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20159776-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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